Variant report

Variant	rs542766348
Chromosome Location	chr9:101866805-101866806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:101866706-101867425	GM12878	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
2	POLR2A	chr9:101866022-101868550	MCF10A-Er-Src	breast:	n/a	n/a
3	BHLHE40	chr9:101866750-101868278	GM12878	blood:	n/a	chr9:101867148-101867164 chr9:101867228-101867244 chr9:101867263-101867279
4	WRNIP1	chr9:101866423-101867122	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:101866747-101867197	HL-60	blood:	n/a	n/a
6	MAX	chr9:101866487-101868271	A549	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
7	MAX	chr9:101866683-101868158	ECC-1	luminal epithelium:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
8	HA-E2F1	chr9:101866770-101867455	MCF-7	breast:	n/a	chr9:101867129-101867138 chr9:101867192-101867202
9	MAX	chr9:101866686-101868352	H1-hESC	embryonic stem cell:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
10	RFX5	chr9:101866652-101867519	HepG2	liver:	n/a	n/a
11	RCOR1	chr9:101866757-101867509	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr9:101866557-101867409	U87	brain:	n/a	n/a
13	ZKSCAN1	chr9:101866768-101867127	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr9:101866453-101867278	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr9:101866466-101867366	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr9:101866726-101867231	A549	lung:	n/a	n/a
17	RAD21	chr9:101866652-101867381	IMR90	lung:	n/a	chr9:101866898-101866912
18	POLR2A	chr9:101866782-101867552	GM12892	blood:	n/a	n/a
19	POLR2A	chr9:101866764-101868288	GM12892	blood:	n/a	n/a
20	ZBTB7A	chr9:101866748-101868375	K562	blood:	n/a	n/a
21	MAX	chr9:101866703-101867543	NB4	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
22	TAF1	chr9:101866685-101868322	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr9:101866739-101867539	A549	lung:	n/a	n/a
24	MAZ	chr9:101865057-101868900	IMR90	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
25	SMC3	chr9:101866794-101867424	Hela-S3	cervix:	n/a	n/a
26	SPI1	chr9:101866761-101866971	K562	blood:	n/a	n/a
27	MAZ	chr9:101866795-101867996	HepG2	liver:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
28	MAX	chr9:101866745-101867251	SK-N-SH	brain:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
29	POLR2A	chr9:101866791-101868426	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr9:101866613-101868339	K562	blood:	n/a	n/a
31	CTCF	chr9:101866740-101866890	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr9:101866736-101867560	K562	blood:	n/a	n/a
33	E2F6	chr9:101866628-101867971	K562	blood:	n/a	chr9:101867771-101867780 chr9:101867129-101867138 chr9:101867937-101867946 chr9:101867192-101867202
34	E2F6	chr9:101866783-101867178	A549	lung:	n/a	chr9:101867129-101867138
35	HEY1	chr9:101866742-101867151	K562	blood:	n/a	n/a
36	POLR2A	chr9:101866744-101868227	MCF-7	breast:	n/a	n/a
37	TAF7	chr9:101866541-101867177	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr9:101866764-101867457	HepG2	liver:	n/a	chr9:101867130-101867140 chr9:101867134-101867143
39	POLR2A	chr9:101866786-101868343	ProgFib	skin:	n/a	n/a
40	POLR2A	chr9:101866660-101868427	GM18505	blood:	n/a	n/a
41	POLR2A	chr9:101866780-101868454	U87	brain:	n/a	n/a
42	NR2F2	chr9:101866406-101867196	K562	blood:	n/a	n/a
43	MAX	chr9:101866643-101867857	A549	lung:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484 chr9:101866665-101866675
44	MAX	chr9:101866772-101867120	H1-hESC	embryonic stem cell:	n/a	n/a
45	MTA3	chr9:101866757-101867164	GM12878	blood:	n/a	n/a
46	TBP	chr9:101866717-101868028	K562	blood:	n/a	n/a
47	CHD2	chr9:101866745-101867534	Hela-S3	cervix:	n/a	n/a
48	MYC	chr9:101866754-101868461	NB4	blood:	n/a	chr9:101867130-101867140 chr9:101867134-101867143 chr9:101867474-101867484
49	CHD1	chr9:101865310-101870084	IMR90	lung:	n/a	n/a
50	POLR2A	chr9:101866526-101868431	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101866361..101869341-chr9:101886452..101890095,3	MCF-7	breast:
2	chr9:101866534..101869508-chr9:101907295..101910821,3	MCF-7	breast:
3	chr9:101608539..101611289-chr9:101866226..101869142,2	MCF-7	breast:
4	chr9:101865542..101868917-chr9:101887238..101894962,8	MCF-7	breast:
5	chr9:101632178..101635172-chr9:101866283..101867803,2	K562	blood:

Variant related genes	Relation type
TGFBR1	TF binding region
ENSG00000267026	Chromatin interaction
ENSG00000252942	Chromatin interaction
ENSG00000106799	Chromatin interaction
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3327607	chr9:101866156-101869104	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3370567	chr9:101866606-101868779	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101865200-101867000	Flanking Active TSS	A549	lung
2	chr9:101865800-101867000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:101865800-101867000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr9:101865800-101867000	Flanking Active TSS	Fetal Intestine Small	intestine
5	chr9:101865800-101867000	Flanking Active TSS	HepG2	liver
6	chr9:101865800-101867000	Flanking Active TSS	NHEK	skin
7	chr9:101866000-101867000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr9:101866000-101867000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:101866000-101867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:101866000-101867000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:101866000-101867000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:101866000-101867000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr9:101866000-101867000	Flanking Active TSS	Osteobl	bone
14	chr9:101866000-101868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:101866000-101868600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr9:101866000-101868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:101866000-101868800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr9:101866200-101867000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:101866200-101867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:101866200-101867000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr9:101866200-101867000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr9:101866200-101867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:101866200-101867000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr9:101866200-101867000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr9:101866200-101867000	Flanking Active TSS	Fetal Brain Male	brain
26	chr9:101866200-101867000	Flanking Active TSS	K562	blood
27	chr9:101866200-101867000	Flanking Active TSS	NH-A	brain
28	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr9:101866200-101867200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr9:101866200-101867200	Active TSS	Fetal Kidney	kidney
31	chr9:101866200-101867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr9:101866200-101868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr9:101866200-101868400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:101866200-101868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:101866200-101868400	Active TSS	Brain Anterior Caudate	brain
36	chr9:101866200-101868600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:101866200-101868600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr9:101866200-101868600	Active TSS	NHDF-Ad	bronchial
39	chr9:101866400-101867000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:101866400-101867000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:101866400-101867000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:101866400-101867000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:101866400-101867000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr9:101866400-101867000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr9:101866400-101867000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr9:101866400-101867000	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr9:101866400-101867000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr9:101866400-101867000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr9:101866400-101867000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr9:101866400-101867000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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